Augmenting Ureagenesis in Patients with Partial Carbamyl Phosphate Synthetase 1 Deficiency with N-carbamyl-l-glutamate
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology and Child Health
Reference13 articles.
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3. Isolation and characterization of a naturally occurring cofactor of carbamyl phosphate biosynthesis;Hall;J Biol Chem,1958
4. Cloning and sequence of a cDNA encoding human carbamyl phosphate synthetase I: molecular analysis of hyperammonemia;Haraguchi;Gene,1991
5. N-acetylglutamate synthetase deficiency: a disorder of ammonia detoxication;Bachmann;N Engl J Med,1981
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1. Variant in the allosteric domain of CPS1 protein associated with effectiveness of N-carbamoyl glutamate therapy in neonatal onset CPS1 deficiency;Journal of Pediatric Endocrinology and Metabolism;2023-07-10
2. Acute Encephalopathy Caused by Inherited Metabolic Diseases;Journal of Clinical Medicine;2023-05-31
3. Novel compound heterozygote variants: c.4193_4206delinsG (p.Leu1398Argfs*25), c.793C > A (p.Pro265Thr), in the CPS1 gene (NM_001875.4) causing late onset carbamoyl phosphate synthetase 1 deficiency—Lessons learned;Molecular Genetics and Metabolism Reports;2022-12
4. O-GlcNAcylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis;Nature Communications;2022-09-05
5. Understanding Inborn Errors of Metabolism through Metabolomics;Metabolites;2022-04-27
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